Publication: Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations
Issued Date
2011-04-01
Resource Type
ISSN
15440591
00220345
00220345
Other identifier(s)
2-s2.0-79954578070
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of Dental Research. Vol.90, No.4 (2011), 450-455
Suggested Citation
P. N. Kantaputra, M. Paramee, A. Kaewkhampa, A. Hoshino, M. Lees, M. McEntagart, N. Masrour, G. E. Moore, E. Pauws, P. Stanier Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations. Journal of Dental Research. Vol.90, No.4 (2011), 450-455. doi:10.1177/0022034510391052 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/11833
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Title
Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations
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Abstract
X-linked cleft palate and ankyloglossia (CPX) are caused by mutations in the TBX22 transcription factor. To investigate whether patients with ankyloglossia alone or in the presence of other craniofacial features including hypodontia or CLP might be caused by TBX22 mutations, we analyzed 45 Thai patients with isolated ankyloglossia, 2 unusual CPA families, and 282 non-syndromic Thai and UK patients with CLP. Five putative missense mutations were identified, including 3 located in the T-box binding domain (R120Q, R126W, and R151L) that affects DNA binding and/or transcriptional repression. The 2 novel C-terminal mutations, P389Q and S400Y, did not affect TBX22 activity. Mutations R120Q and P389Q were identified in patients with ankyloglossia only, while R126W and R151L were present in families that included CLP. Several individuals in these families were also found to have micro/hypodontia. This study has expanded the phenotypic spectrum of TBX22-related mutations to include dental anomalies and cleft lip. © 2011 International & American Associations for Dental Research.